A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153311



Internal ID20028794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96136138..96141249hg38UCSC Ensembl
chr7:95765450..95770561hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385112
hg195112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15921877
Samples
Known GenesSLC25A13
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4153311
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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